NM_001298.3:c.967G>C

  1. Home
  2. NM_001298.3:c.967G>C

HGVS Expressions

  • NG_009097.1:g.54983G>C
  • NM_001298.3:c.967G>C
  • NP_001289.1:p.Ala323Pro
  • NC_000002.12:g.98396137G>C

Associated Genes

Cyclic Nucleotide-Gated Channel, Alpha-3
Back to search Result
Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

146195955

Clinvar

284032

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
216900.4United Arab Emirates1Likely PathogenicAchromatopsia 2Khan. 2020
Download Table

Contributors

  • Asha Deepthi: 17.05.2021

Edit History

  • Sami Bizzari: 21.12.2022
  • Sayeeda Hana: 07.12.2022
  • Asha Deepthi: 17.05.2021
Back to search Result
© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.